EGR1 c.1288G>T ;(p.V430F)

Variant ID: 5-137803426-G-T

NM_001964.2(EGR1):c.1288G>T;(p.V430F)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: 225: 1288G>T
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).

Bmc Medical Genomics
Semyachkina, Alla Nikolaevna AN; Voskoboeva, Elena Yurievna EY; Nikolaeva, Ekaterina Alexandrovna EA; Zakharova, Ekaterina Yurievna EY
Publication Date: 2021-03-06

Variant appearance in text: 225: 1288G>T
PubMed Link: 33676511
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Multipronged Approach Establishes Covalent Modification of β-Tubulin as the Mode of Action of Benzamide Anti-cancer Toxins.

Journal Of Medicinal Chemistry
Povedano, Juan Manuel JM; Rallabandi, Rameshu R; Bai, Xin X; Ye, Xuecheng X; Liou, Joel J; Chen, Hong H; Kim, Jiwoong J; Xie, Yang Y; Posner, Bruce B; Rice, Luke L; De Brabander, Jef K JK; McFadden, David G DG
Publication Date: 2020-11-25

Variant appearance in text: 225: 1288G>T
PubMed Link: 33180487
Variant Present in the following documents:
  • jm0c01482_si_002.xlsx, sheet 1
View BVdb publication page



Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.

European Journal Of Human Genetics : Ejhg
Hauer, Nadine N NN; Popp, Bernt B; Taher, Leila L; Vogl, Carina C; Dhandapany, Perundurai S PS; Büttner, Christian C; Uebe, Steffen S; Sticht, Heinrich H; Ferrazzi, Fulvia F; Ekici, Arif B AB; De Luca, Alessandro A; Klinger, Patrizia P; Kraus, Cornelia C; Zweier, Christiane C; Wiesener, Antje A; Jamra, Rami Abou RA; Kunstmann, Erdmute E; Rauch, Anita A; Wieczorek, Dagmar D; Jung, Anna-Marie AM; Rohrer, Tilman R TR; Zenker, Martin M; Doerr, Helmuth-Guenther HG; Reis, André A; Thiel, Christian T CT
Publication Date: 2019-07

Variant appearance in text: 225: 1288G>T
PubMed Link: 30809043
Variant Present in the following documents:
  • 41431_2019_362_MOESM2_ESM.xlsx, sheet 4
  • 41431_2019_362_MOESM2_ESM.xlsx, sheet 14
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: 225: 1288G>T
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: 225: 1288G>T
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page